ClinVar Miner

List of variants in gene KCNT1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 390
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HGVS dbSNP
NC_000009.12:g.135702113A>T rs113047199
NM_020822.3(KCNT1):c.-40C>T rs908377945
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys) rs1131691442
NM_020822.3(KCNT1):c.1035+292C>T rs78852596
NM_020822.3(KCNT1):c.1036-160G>T rs112178019
NM_020822.3(KCNT1):c.1036-168C>G rs114063333
NM_020822.3(KCNT1):c.1036-170A>G rs55678700
NM_020822.3(KCNT1):c.1036-205G>T rs79954161
NM_020822.3(KCNT1):c.1036-206G>A rs11103174
NM_020822.3(KCNT1):c.1036-207C>T rs56092954
NM_020822.3(KCNT1):c.1036-233C>T rs56382410
NM_020822.3(KCNT1):c.1036-39A>G rs41298365
NM_020822.3(KCNT1):c.1036-7C>T rs774394132
NM_020822.3(KCNT1):c.1036-94T>C rs55816769
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195
NM_020822.3(KCNT1):c.1061T>G (p.Met354Arg) rs1057522923
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=)
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=) rs777409717
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.110+154G>A rs188210338
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=) rs756900818
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1200+130T>C rs59741818
NM_020822.3(KCNT1):c.1200+177_1200+196del rs60237528
NM_020822.3(KCNT1):c.1200+68A>G rs141793832
NM_020822.3(KCNT1):c.1201-6C>T rs543464639
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.123G>C (p.Ala41=) rs1352859989
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys) rs886043301
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.126G>A (p.Gly42=) rs1278186698
NM_020822.3(KCNT1):c.1282C>A (p.Arg428=) rs373755663
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=) rs200910140
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490
NM_020822.3(KCNT1):c.1337+121A>C rs62583545
NM_020822.3(KCNT1):c.1337+198T>C rs10118323
NM_020822.3(KCNT1):c.1337+29A>G rs10117578
NM_020822.3(KCNT1):c.1337+310_1337+323del rs34698704
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1337+81G>A rs10120407
NM_020822.3(KCNT1):c.1338-219G>A rs62583551
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1338-56G>A rs77818758
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=) rs138306663
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1401+29G>A rs35127932
NM_020822.3(KCNT1):c.1401+3G>T rs1564367303
NM_020822.3(KCNT1):c.1402-5G>A rs573411729
NM_020822.3(KCNT1):c.1402-64C>T rs57788375
NM_020822.3(KCNT1):c.1402-6C>T rs755796820
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg) rs773888049
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1426T>C (p.Trp476Arg) rs886039397
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=) rs375585422
NM_020822.3(KCNT1):c.1496A>G (p.His499Arg) rs1554774362
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800
NM_020822.3(KCNT1):c.1510+163T>C rs11103180
NM_020822.3(KCNT1):c.1510+163_1510+202del rs1564368213
NM_020822.3(KCNT1):c.1510+183T>A rs10858171
NM_020822.3(KCNT1):c.1510+183_1510+222del rs1564368224
NM_020822.3(KCNT1):c.1510+206_1510+245del rs778034391
NM_020822.3(KCNT1):c.1510+251C>T rs56413753
NM_020822.3(KCNT1):c.1510+265A>G rs56142950
NM_020822.3(KCNT1):c.1510+270A>G rs60142493
NM_020822.3(KCNT1):c.1510+307T>C rs56187647
NM_020822.3(KCNT1):c.1510+321C>T rs12683761
NM_020822.3(KCNT1):c.1510+4C>T rs554828530
NM_020822.3(KCNT1):c.1510+80C>T rs188246311
NM_020822.3(KCNT1):c.1510+96A>G rs11103179
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.1511-5C>T rs546333402
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=) rs377263803
NM_020822.3(KCNT1):c.1566C>T (p.Ile522=)
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=) rs749641549
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1619+38C>T rs112428005
NM_020822.3(KCNT1):c.1619+45G>A rs116237874
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=) rs758644634
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu) rs567764094
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=) rs143983055
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=) rs760141025
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly) rs1588255313
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr) rs144421853
NM_020822.3(KCNT1):c.1769+172G>T rs10735240
NM_020822.3(KCNT1):c.1769+67T>G rs56157148
NM_020822.3(KCNT1):c.1769+8C>T rs371287985
NM_020822.3(KCNT1):c.1769+98G>A rs145655663
NM_020822.3(KCNT1):c.1770-116C>A rs143609496
NM_020822.3(KCNT1):c.1770-20T>C rs1239661382
NM_020822.3(KCNT1):c.1770-34G>T rs148022360
NM_020822.3(KCNT1):c.1770-42G>A rs10858172
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747
NM_020822.3(KCNT1):c.1779G>A (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=) rs1588361953
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr) rs1554775058
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=)
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys) rs1564371427
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681
NM_020822.3(KCNT1):c.2008+10G>C rs752453368
NM_020822.3(KCNT1):c.2008+114T>C rs150112196
NM_020822.3(KCNT1):c.2008+115G>A rs7870035
NM_020822.3(KCNT1):c.2008+215G>A rs7870173
NM_020822.3(KCNT1):c.2008+21G>A rs7869884
NM_020822.3(KCNT1):c.2008+238A>G rs7856882
NM_020822.3(KCNT1):c.2009-206G>A rs112152062
NM_020822.3(KCNT1):c.2009-222G>A rs56068722
NM_020822.3(KCNT1):c.2009-39G>A rs78274769
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=) rs1267885761
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758
NM_020822.3(KCNT1):c.2196G>A (p.Ser732=) rs557680361
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=) rs148162797
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2243+172C>T rs113382099
NM_020822.3(KCNT1):c.2243+277A>T rs34257069
NM_020822.3(KCNT1):c.2243+328G>A rs118000596
NM_020822.3(KCNT1):c.2243+56G>A rs36100410
NM_020822.3(KCNT1):c.2244-10C>T
NM_020822.3(KCNT1):c.2244-184G>A rs78888390
NM_020822.3(KCNT1):c.2244-217T>C rs113226150
NM_020822.3(KCNT1):c.2244-309T>C rs112366773
NM_020822.3(KCNT1):c.2244-327C>T rs76916715
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=) rs1263083880
NM_020822.3(KCNT1):c.2278A>T (p.Ile760Phe) rs1064795013
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser) rs761987610
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=) rs1588376018
NM_020822.3(KCNT1):c.2349+148A>G rs111494768
NM_020822.3(KCNT1):c.2349+269C>T rs76125418
NM_020822.3(KCNT1):c.2349+301G>A rs62584760
NM_020822.3(KCNT1):c.2349+319C>A rs74694371
NM_020822.3(KCNT1):c.2349+325_2349+326insA rs145386249
NM_020822.3(KCNT1):c.2349+326G>T rs530593370
NM_020822.3(KCNT1):c.2349+59T>C rs78752353
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2350-109A>G rs114229286
NM_020822.3(KCNT1):c.2350-10C>T rs367855961
NM_020822.3(KCNT1):c.2350-189G>A rs369543918
NM_020822.3(KCNT1):c.2350-24_2350-13del rs374463149
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=) rs1588380952
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=) rs557969167
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823
NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val)
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448
NM_020822.3(KCNT1):c.2523-294C>A rs10776845
NM_020822.3(KCNT1):c.2523-99C>A rs146087255
NM_020822.3(KCNT1):c.254+10G>C rs772892562
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.255-164A>G rs11103161
NM_020822.3(KCNT1):c.255-294G>A rs11103160
NM_020822.3(KCNT1):c.255-295C>T rs117005981
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2594+7C>T rs545094921
NM_020822.3(KCNT1):c.2595-83C>G rs112557482
NM_020822.3(KCNT1):c.2605C>G (p.Leu869Val) rs1564382343
NM_020822.3(KCNT1):c.2641G>T (p.Val881Leu) rs1564382426
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2677G>A (p.Glu893Lys) rs1554778082
NM_020822.3(KCNT1):c.2688G>C (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=) rs1588385244
NM_020822.3(KCNT1):c.2729+31A>G rs113887396
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2730-164_2730-98del rs1564383338
NM_020822.3(KCNT1):c.2730-3C>T rs1193875216
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220
NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) rs1554778336
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=) rs1401533323
NM_020822.3(KCNT1):c.2841+212G>A rs7024528
NM_020822.3(KCNT1):c.2842-69A>C rs10776848
NM_020822.3(KCNT1):c.2842-80C>G rs10776847
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.288C>T (p.Thr96=) rs764504563
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2913C>T (p.Ser971=) rs1340916778
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.2944-19T>C rs759060806
NM_020822.3(KCNT1):c.2944-75C>T rs192706978
NM_020822.3(KCNT1):c.2944T>C (p.Ser982Pro) rs1057523641
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2957_2958insT (p.Tyr987fs) rs886042435
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=) rs781212036
NM_020822.3(KCNT1):c.2977C>A (p.Arg993=) rs368252006
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys) rs372775166
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=) rs368875875
NM_020822.3(KCNT1):c.3027+12T>C rs886043446
NM_020822.3(KCNT1):c.3042G>A (p.Glu1014=)
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3156+15_3156+37del rs777726660
NM_020822.3(KCNT1):c.3156+8G>A rs764262230
NM_020822.3(KCNT1):c.3177+129G>A rs146429987
NM_020822.3(KCNT1):c.3177+67A>T rs111386077
NM_020822.3(KCNT1):c.3178-10_3178-1dup rs748283635
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro) rs561255614
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=) rs960008558
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=) rs760868141
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=) rs1373486252
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594
NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His)
NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile) rs1085307807
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3502+1617C>G rs1588412829
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.3(KCNT1):c.3503-67G>A rs139315777
NM_020822.3(KCNT1):c.3503-68T>C rs41299048
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=) rs1588422518
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=) rs530040739
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995
NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr) rs777322392
NM_020822.3(KCNT1):c.3587+3G>A rs1588422718
NM_020822.3(KCNT1):c.3587+63T>C rs41306389
NM_020822.3(KCNT1):c.3587+71C>T rs41310949
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740
NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn)
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=) rs758617654
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.399C>T (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.3(KCNT1):c.434+25C>A rs10122976
NM_020822.3(KCNT1):c.434+269G>A rs57969144
NM_020822.3(KCNT1):c.435-257G>C rs7019051
NM_020822.3(KCNT1):c.435-67C>T rs12378616
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100
NM_020822.3(KCNT1):c.492-86C>T rs4842032
NM_020822.3(KCNT1):c.502C>T (p.Leu168=) rs1175336277
NM_020822.3(KCNT1):c.504G>A (p.Leu168=) rs1588317741
NM_020822.3(KCNT1):c.510G>A (p.Val170=) rs1588317755
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.534G>A (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.541-225C>T rs66469249
NM_020822.3(KCNT1):c.564C>T (p.Phe188=) rs1588321872
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864
NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg) rs1429039180
NM_020822.3(KCNT1):c.573G>C (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020822.3(KCNT1):c.600+8C>T rs1588321982
NM_020822.3(KCNT1):c.600+9C>T rs1287458024
NM_020822.3(KCNT1):c.601-13C>G rs202113794
NM_020822.3(KCNT1):c.60G>A (p.Gly20=) rs777349172
NM_020822.3(KCNT1):c.670A>G (p.Ile224Val) rs1554770959
NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala) rs1554770961
NM_020822.3(KCNT1):c.675+4G>C rs794727929
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.741C>T (p.His247=) rs1218041775
NM_020822.3(KCNT1):c.744G>A (p.Ala248=) rs145697148
NM_020822.3(KCNT1):c.759+7C>T rs779833209
NM_020822.3(KCNT1):c.760-110_760-109insACAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGTAGGCTGCCCCGTGGGCCTCAGCCGAGAC rs1564353885
NM_020822.3(KCNT1):c.760-138C>T rs11103170
NM_020822.3(KCNT1):c.760-139A>G rs10776842
NM_020822.3(KCNT1):c.760-189_760-98del rs1564353623
NM_020822.3(KCNT1):c.760-231G>A rs10858165
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.781C>T (p.Leu261=) rs1588327182
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.808C>G (p.Gln270Glu) rs1554771476
NM_020822.3(KCNT1):c.811G>T (p.Val271Phe)
NM_020822.3(KCNT1):c.841C>A (p.Leu281Ile) rs1057522914
NM_020822.3(KCNT1):c.855-280del rs35933412
NM_020822.3(KCNT1):c.855-43A>G rs58690674
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.3(KCNT1):c.999C>T (p.Ile333=) rs764327750
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
Single allele

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